Congenital Myasthenia
Gene: GFPT1

GFPT1 (glutamine--fructose-6-phosphate transaminase 1)
EnsemblGeneIds (GRCh38): ENSG00000198380
EnsemblGeneIds (GRCh37): ENSG00000198380
OMIM: 138292, Gene2Phenotype
GFPT1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 15 unrelated families reported.
Created: 24 Oct 2020, 8:42 a.m. | Last Modified: 24 Oct 2020, 8:42 a.m.

Panel Version: 0.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenia, congenital, 12, with tubular aggregates, MIM# 610542

Publications

21310273
30635494]

Created: 24 Oct 2020, 8:42 a.m.
Last Modified: 24 Oct 2020, 8:42 a.m.
Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Myasthenia, congenital, 12, with tubular aggregates, 610542
Limb-girdle congenital myasthenic syndrome

OMIM

138292

Clinvar variants

Variants in GFPT1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gfpt1 has been classified as Green List (High Evidence).

24 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GFPT1 were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GFPT1 was added gene: GFPT1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome

Congenital Myasthenia Gene: GFPT1